Discovery system for disease cause by genetic variants using individual whole genome sequencing data

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The present invention relates to a system for discovering the cause of a disease by analyzing genetic information from a personal genome by comparing individual whole genome information with a plurality of whole genome DB constructed by a genome project. The present invention includes an analysis data input part for inputting analysis data including personal genome information; a search control part for calculating an analysis result including at least one of genotypes, genotypes, rare mutations, disease and biologically active mutations in each gene by comparing the genetic information stored in the database with the genome information to be analyzed, and generating a result report through the analysis result; and a storage part for storing the gene information of a control group for comparison with the analysis data. According to the present invention, it is possible to provide a genetic analysis platform in which the genotype discrimination of the individual genome and the detection efficiency of significant mutation are improved by effectively comparing the gene mutation information stored in a control database and the individual genome as a subject to be analyzed.(1) Single-gene-based haplo-frequency(2) Single-gene-based haplo-map(3) Multi-gene-based haplo-frequency(4) Multi-gene-based haplo-map(A1, A2) Variant 1(B1, B2) Variant 2(CC) Variant 3(DD) Variant 4(E1, E2, E3) Variant N(FF) Variant n(GG) Variant m(H1, H2) Variant(I1, I2) Horizontal frequency information(JJ) Population group (person)(K1, K2) Vertical group(LL) Gene(MM) VerticalCOPYRIGHT KIPO 2017